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rs398123494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123494(-;-)
Make rs398123494(-;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41397841
GeneBCKDHA, EXOSC5
is asnp
is mentioned by
dbSNPrs398123494
ebirs398123494
HLIrs398123494
Exacrs398123494
Varsomers398123494
Maprs398123494
PheGenIrs398123494
hapmaprs398123494
1000 genomesrs398123494
hgdprs398123494
ensemblrs398123494
gopubmedrs398123494
geneviewrs398123494
scholarrs398123494
googlers398123494
pharmgkbrs398123494
gwascentralrs398123494
openSNPrs398123494
23andMers398123494
23andMe allrs398123494
SNP Nexus

SNPshotrs398123494
SNPdbers398123494
MSV3drs398123494
GWAS Ctlgrs398123494
Max Magnitude0
ClinVar
Risk rs398123494(;)
Alt rs398123494(;)
Reference rs398123494(T;T)
Significance Pathogenic
Disease not provided Maple syrup urine disease
Variation info
Gene BCKDHA EXOSC5
CLNDBN not provided Maple syrup urine disease
Reversed 0
HGVS NC_000019.9:g.41903746delT
CLNSRC ClinVar
CLNACC RCV000079231.3, RCV000173164.1,